Polyposis Research

Juvenile polyposis syndrome is an inherited condition that is characterized by the development of hamartomatous polyps throughout the digestive tract. This syndrome is known for its unpredictability.

Genetic mistakes in two genes (BMPR1A and SMAD4) have been linked to roughly half of the families with this syndrome meaning other causative genes remain to be identified.  

Faculty members at Nationwide Children’s are focused on learning more about how polyposis develops in order to improve diagnosis, treatment and prevention strategies.

Faculty Focused on Polyposis Research

• Steven H. Erdman

Latest Findings in Polyposis Research

Review: Clinical Features of the Three Most Common Polyp Syndromes of Childhood
Colon polyps are a common finding in pediatrics. However, when polyps are present in greater numbers, or are associated with a family history of polyps or colon or other cancers, a polyposis or hereditary colorectal cancer syndrome should be considered. This article reviews the clinical features and provides updates on the three most common hamartomatous polyp syndromes of childhood: juvenile polyposis syndrome, Peutz-Jeghers syndrome, and the PTEN hamartoma tumor syndrome.

Access an abstract of this study: Pediatric juvenile polyposis syndromes: an update. Curr Gastroenterol Rep. 2009 Jun;11(3):211-9.

Does Residency Training Prepare Pediatricians to Identify and Treat Hereditary GI Cancer-Disposing Syndromes?
Pediatricians need to competently care for children with hereditary gastrointestinal cancer-predisposing syndromes. This study suggests that familiarity with cancer syndromes does not accrue during resident training in pediatrics. The observations suggest that greater emphasis on resident education on these syndromes may improve outcomes in this vulnerable group.

Access an abstract of this study: A web-based assessment of pediatrics resident medical knowledge in childhood hereditary gastrointestinal cancer predisposing syndromes. J Cancer Educ. 2009;24(4):254-6.